Associated Papers
Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant.
Perea-Cabrera M et al.
Molecular Genetics & Genomic Medicine, 2023
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac.
Du H et al.
Plos One, 2014
MID1 mutations in patients with X-linked Opitz G/BBB syndrome.
Fontanella B et al.
Human Mutation, 2008
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
De Falco F et al.
American Journal of Medical Genetics. Part A, 2003
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.
Cox TC et al.
Human Molecular Genetics, 2000
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